Clinical Genetics, EarlyView.Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam +9 more
wiley +1 more source
The you Gene Encodes an EGF-CUB Protein Essential for Hedgehog Signaling in Zebrafish
, 2005 Ian G. Woods, William S. Talbot
openalex +2 more sources
14-3-3 Proteins Regulate a Cell-Intrinsic Switch from Sonic Hedgehog-Mediated Commissural Axon Attraction to Repulsion after Midline Crossing [PDF]
, 2012 Patricia T. Yam +9 more
openalex +1 more source
Implication of GPRASP2 in the Proliferation and Hair Cell‐Forming of Cochlear Supporting Cells
Cell Proliferation, EarlyView.Schematic diagram of GPRASP2‐mediated SCs proliferation and HCs formation. GPRASP2 deficiency results in increased lysosomal degradation of SMO. GPRASP2‐mediated SMO/GLI1 signalling promotes SC proliferation, which contributes to HC formation. GPRASP2‐mediated SMO/β‐catenin signalling is implicated in HCs fate specification and differentiation ...
Jing Cai +9 more
wiley +1 more source
Stimulation of superficial zone protein accumulation by hedgehog and Wnt signaling in surface zone bovine articular chondrocytes [PDF]
, 2012 Takashi Iwakura +2 more
openalex +1 more source
Engineering Intervertebral Disc Regeneration: Biomaterials, Cell Sources and Animal Models
Cell Proliferation, EarlyView.This review highlights the current tissue engineering approaches utilising biomaterials, animal models and cell sources for intervertebral disc regeneration and discusses future opportunities. ABSTRACT Intervertebral disc (IVD) degeneration is an age‐related problem triggering chronic spinal issues, such as low back pain and IVD herniation.
Sidong Yang +8 more
wiley +1 more source
Stimulation of superficial zone protein/lubricin accumulation by Hedgehog signaling in surface zone articular chondrocyte [PDF]
, 2012 Takashi Iwakura +2 more
openalex +1 more source
Herbal Medicine for Colorectal Cancer Treatment: Molecular Mechanisms and Clinical Applications
Cell Proliferation, EarlyView.Colorectal cancer is a prevalent gastrointestinal tumour and the second deadliest cancer worldwide, affecting approximately 10% of all cancers and cancer‐related deaths. Current clinical methods for treating CRC cause gastrointestinal abnormalities and myelosuppression.
Zuqing Su +5 more
wiley +1 more source